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. 2014 Mar 10;124(4):1699–1710. doi: 10.1172/JCI71520

Figure 5. Intergenic polymorphisms associated with HbF and other erythroid parameters localize to the intergenic regulatory elements.

Figure 5

All published intergenic SNPs associated with human erythroid traits (P < 10–8; blue) and the most highly associated (P < 10–65 and 3 or more major erythroid parameters [%HbF, MCV, MCH and RBC]; red) variants are shown directly under MYB and HBS1L gene locations. Below, a zoom-in picture of the LDB1 binding-site cluster and its regulatory signature is further compared with the location of the conserved core (gray), HMIP-2 block (dark blue) and the 17 highly associated candidate SNPs. Chromatin looping with the MYB promoter (Figure 4A) is depicted on a white (no interaction) to red (strong interaction) color gradient. Two additional zoom-in pictures display the locations of the SNPs relative to the TF-binding motifs (identified by JASPAR) within the –84 and –71 sites. Within the –84 element, rs66650371 is the actual associated variant (in red; see Results for details).